Tay-Sachs disease

This early-stage trial tests whether adding special cells (DUOC-01) into the spinal fluid is safe for children with inherited metabolic diseases that damage the brain. Participants are ages 1 week to 21 years and are already receiving a standard umbilical cord blood transplant. T…

This study follows 2,800 unpaid caregivers of people with chronic conditions like diabetes or inherited disorders. Researchers will survey and interview caregivers over up to 5 years to track changes in their health, stress, and social support. The goal is to understand how careg…

This study follows children and adults with Tay-Sachs, Sandhoff, and GM1 gangliosidosis to understand how these diseases progress. Researchers will measure changes in motor skills, communication, and behavior each year. The goal is to create a clear picture of the diseases so fut…

This study follows 1500 people with rare genetic brain disorders to learn how these diseases progress. Researchers measure thinking, movement, and daily living skills over time, and also look at brain scans and body fluids. The goal is to better understand the diseases and how tr…